Immunodeficiency 37

Preferred Label : Immunodeficiency 37;

Symbol : IMD37;

CISMeF acronym : IMD37;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the B-cell CLL/lymphoma 10 gene (BCL10, 603517.0019);

Prefixed ID : #616098;

Details

Origin ID

616098;

UMLS CUI

C4015195;

Automatic exact mappings (from CISMeF team)
- immunodeficiency 37 [DO Concept]
DO Cross reference
- immunodeficiency 37 [DO Concept]
Genes related to phenotype
- Bcl10 immune signaling adaptor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Colitis [HPO term]
- Decreased circulating antibody level [HPO term]
- Decreased proportion of central memory CD4-positive, alpha-beta T cells [HPO term]
- Immunodeficiency [HPO term]
- Infantile onset [HPO term]
- Infectious encephalitis [HPO term]
- Recurrent infections [HPO term]
- Seizure [HPO term]
- Status epilepticus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 37 [DO Concept]

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